Variant interpretation using population databases: Lessons from gnomAD-Reference-Cited by-同舟云学术

Variant interpretation using population databases: Lessons from gnomAD

Published:2021-12-16 Issue: Volume: Page:
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Gudmundsson Sanna¹²³^ORCID,Singer‐Berk Moriel¹³^ORCID,Watts Nicholas A.¹³,Phu William¹²³^ORCID,Goodrich Julia K.¹³^ORCID,Solomonson Matthew¹³^ORCID,Rehm Heidi L.¹³⁴^ORCID,MacArthur Daniel G.¹⁵⁶^ORCID,O'Donnell‐Luria Anne¹²³^ORCID,

Affiliation:

1. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA

2. Division of Genetics and Genomics, Boston Children's Hospital Harvard Medical School Boston MA USA

3. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA

4. Center for Genomic Medicine Massachusetts General Hospital Boston MA USA

5. Centre for Population Genomics, Garvan Institute of Medical Research University of New South Wales Sydney Sydney New South Wales Australia

6. Centre for Population Genomics Murdoch Children's Research Institute Melbourne Victoria Australia

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24309

Reference48 articles.

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4. Mendelian Gene Discovery: Fast and Furious with No End in Sight

5. Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

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